Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2017 Feb 6;5(3):315-320.
doi: 10.1002/ccr3.699. eCollection 2017 Mar.

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Abdullah A Baothman  1 , Enaam AlSobhi  2 , Hassan A Khayat  3 , Raed E Alsulami  3 , Abdulaziz S Alkahtani  3 , Abdelraheem A Al-Thobyani  4 , Yousef I Marzouk  3 , Mohammad A Abdelaal  2
Affiliations
Case Reports

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects

Abdullah A Baothman et al. Clin Case Rep. .

Abstract

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.

Keywords: Deficiency; genotype; homozygous; presentation; protein C; purpura fulminans.

PubMed Disclaimer

References

    1. Stenflo, J. 1976. A new vitamin K‐dependent Protein. purification from bovine plasma and preliminary characterization. J. Biol. Chem. 251:355–363. - PubMed
    1. Clouse, L. H. , and Comp P. C.. 1986. The regulation of hemostasis: the protein C system. N. Engl. J. Med. 314:1298–1304. - PubMed
    1. Alhenc‐Gelas, M. , Gandrille S., Aubry M. L., and Aiach M.. 2000. Thirty‐three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S. Thromb. Haemost. 83:86–92. - PubMed
    1. http://www.hgmd.cf.ac.uk/ac/gene.php?gene=PROC(accessed 30 August 2016).
    1. Seligsohn, U. , and Lubetsky A.. 2001. Genetic susceptibility to venous thrombosis. N. Engl. J. Med. 344:1222–1231. - PubMed

Publication types

LinkOut - more resources